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DESCRIBE <http://purl.uniprot.org/SHA-384/68DC77601567AB77D3F72004B67CE39945CCB0CA8334EA463A3BCCCCB453BD4CF1623ED96364D73AD0C0A232D34EF5F1>
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http://purl.uniprot.org/SHA-384/68DC77601567AB77D3F72004B67CE39945CCB0CA8334EA463A3BCCCCB453BD4CF1623ED96364D73AD0C0A232D34EF5F1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/68DC77601567AB77D3F72004B67CE39945CCB0CA8334EA463A3BCCCCB453BD4CF1623ED96364D73AD0C0A232D34EF5F1
http://www.w3.org/2000/01/rdf-schema#comment
"The genetic test showed a heterozygous mutation in the gene encoding Protoporphyrinogen Oxidase (PPOX); c.2T > A (p.Met1Lys) on chromosome 1q23 which supports the diagnosis of Variegate Porphyria"
xsd:string
http://purl.uniprot.org/uniprot/#_F38798C41FA1C5B11D1ADF45953F75596E8F7D36D0FB3926BDFD2FBF74AC4FB1B6293AE0A902D9AEBBB5D253C5F38B42
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/68DC77601567AB77D3F72004B67CE39945CCB0CA8334EA463A3BCCCCB453BD4CF1623ED96364D73AD0C0A232D34EF5F1
http://purl.uniprot.org/uniprot/B4DY76
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/68DC77601567AB77D3F72004B67CE39945CCB0CA8334EA463A3BCCCCB453BD4CF1623ED96364D73AD0C0A232D34EF5F1
http://purl.uniprot.org/uniprot/#_B4DY76-mappedCitation-29550908
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/68DC77601567AB77D3F72004B67CE39945CCB0CA8334EA463A3BCCCCB453BD4CF1623ED96364D73AD0C0A232D34EF5F1